LP208438-4

LAMA3 gene

Active

Description

The LAMA3 gene (laminin subunit alpha 3) [HGNC Gene ID:6483] is located on chromosome 18q11.2. The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014] [NCBI Gene ID:3909] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name

LAMA3 gene

Part Display Name

LAMA3 gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2016-03-17

Construct for LOINC Short Name

LAMA3

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